Canonical Allele Identifier: CA561259527

Gene: ADGRV1

Linked Data

• dbSNP Id: rs1438687296
• gnomAD v2: 5-89923217-GACA-G
• gnomAD v4: 5-90627400-GACA-G
• MyVariant Identifiers: chr5:g.89923218_89923220del (hg19) ; chr5:g.90627401_90627403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90627405_90627407del , CM000667.2:g.90627405_90627407del	GRCh38
NC_000005.9:g.89923222_89923224del , CM000667.1:g.89923222_89923224del	GRCh37
NC_000005.8:g.89958978_89958980del	NCBI36
NG_007083.1:g.73606_73608del
NG_007083.2:g.103062_103064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.867_869del MANE Select	ENSP00000384582.2:p.Asn290del
ENST00000640083.1:n.572_574del
ENST00000640109.1:n.963_965del
ENST00000640281.1:n.926_928del
ENST00000405460.6:c.867_869del	ENSP00000384582.2:p.Asn290del
NM_032119.3:c.867_869del	NP_115495.3:p.Asn290del
NR_003149.1:n.963_965del
XM_011543675.1:c.867_869del	XP_011541977.1:p.Asn290del
XM_011543676.1:c.867_869del	XP_011541978.1:p.Asn290del
XM_011543678.1:c.867_869del	XP_011541980.1:p.Asn290del
XM_011543679.1:c.867_869del	XP_011541981.1:p.Asn290del
NM_032119.4:c.867_869del MANE Select	NP_115495.3:p.Asn290del
XM_017009963.2:c.867_869del	XP_016865452.1:p.Asn290del
XM_017009964.2:c.867_869del	XP_016865453.1:p.Asn290del
XM_017009965.1:c.864_866del	XP_016865454.1:p.Asn289del
XM_017009966.2:c.867_869del	XP_016865455.1:p.Asn290del
XM_017009967.1:c.771_773del	XP_016865456.1:p.Asn258del
XM_017009968.2:c.867_869del	XP_016865457.1:p.Asn290del
XM_017009969.2:c.867_869del	XP_016865458.1:p.Asn290del
XM_017009970.2:c.867_869del	XP_016865459.1:p.Asn290del
XM_017009971.2:c.867_869del	XP_016865460.1:p.Asn290del
XM_017009974.2:c.867_869del	XP_016865463.1:p.Asn290del
NR_003149.2:n.966_968del